Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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FRENCH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| COMPLEMENTATION GROUP |
Until 1991 GM03248 was placed in the now defunct xeroderma pigmentosum complementation group H (Moshell et al in: Cellular Responses to DNA Damage, Eds. E.C. Friedberg and B.A. Bridges, pp. 209-213, Alan Liss, New York, 1983). In extensive complementation studies Johnson et al (Hum. Genet., 81:203-210, 1989), demonstrated that GM03248 was unable to complement xeroderma pigmentosum complementation group D cells, a finding confirmed by Vermuelen et al (Mutat. Res., 255:201-208, 1991). GM03248 therefore is a member of the XP-D complementation group and has a G1805A mutation in the ERCC2 gene (Broughton et al Am. J. Hum. Genet. 56:167-174, 1995). This mutation arose in a family with two affected children who expressed synptoms of both xeroderma pigmentosum and Cockayne syndrome (Lafforet and Dupuy Arch. Franc. Pediat. [Suppl.], 35:65-74, 1978). |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
G602D; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
GLY602ASP |
| Remarks |
XP-CS2; child showed features of Cockayne syndrome; 46,XY; 10% of cells show random chromosome loss/gain; XP skin changes in areas exposed to light; neurological manifestations; 30 to 50% of normal post UV induced unscheduled DNA synthesis, and 30% of normal post UV induced DNA incision activity; at the cellular level this culture has between 30 and 52% of control unscheduled DNA synthesis after UVB radiation (Moshell et al J. Cell. Biochem., Suppl. 7B:202 [Abstr],1983, Johnson and Squires Mutat. Res. DNA Repair, 273:97-118,1992); donor subject has a single expressed allele for the ERCC2 gene which carries a G-to-A substitution at nucleotide 1805 (1805G>A) resulting in a gly602-asp change [Gly602Asp (G602D)] in the protein; see GM03249 Lymphoid |
| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Alupei MC1, Maity P1, Esser PR2, Krikki I1, Tuorto F3, Parlato R4, Penzo M5, Schelling A1, Laugel V6, Montanaro L5, Scharffetter-Kochanek K1, Iben S, Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome Cell Reports23:1612-1619 2018 |
| PubMed ID: 29742419 |
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| Wang QE, Han C, Zhao R, Wani G, Zhu Q, Gong L, Battu A, Racoma I, Sharma N, Wani AA, p38 MAPK- and Akt-mediated p300 phosphorylation regulates its degradation to facilitate nucleotide excision repair Nucleic acids research41:1722-33 2012 |
| PubMed ID: 23275565 |
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| Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012 |
| PubMed ID: 23083890 |
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| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
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| Dittmann KH, Dikomey E, Mayer C, Rodemann HP, The Bowman-Birk protease inhibitor enhances clonogenic cell survival of ionizing radiation-treated nucleotide excision repair-competent cells but not of xeroderma pigmentosum cells. Int J Radiat Biol76(2):223-9 2000 |
| PubMed ID: 10716643 |
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| Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and
CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000 |
| PubMed ID: 10786832 |
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| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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| Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al, Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet56(1):167-74 1995 |
| PubMed ID: 7825573 |
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| Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA, Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone
disorder xeroderma pigmentosum group D. Cancer Res55(23):5656-63 1995 |
| PubMed ID: 7585650 |
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| Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992 |
| PubMed ID: 1372108 |
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| Robbins JH, Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D [letter] Hum Genet88:242 1991 |
| PubMed ID: 1757099 |
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| Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JH, Bootsma D, Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res255:201-8 1991 |
| PubMed ID: 1922152 |
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| Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
| PubMed ID: 1702221 |
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| Johnson RT, Elliott GC, Squires S, Joysey VC, Lack of complementation between xeroderma pigmentosum complementation groups D and H. Hum Genet81(3):203-10 1989 |
| PubMed ID: 2921028 |
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| Yamaizumi M, Inaoka T, Uchida T, Ohtsuka E, Microinjection of T4 endonuclease V produced by a synthetic denV gene stimulates unscheduled DNA synthesis in both xeroderma pigmentosum and normal cells. Mutat Res217:135-40 1989 |
| PubMed ID: 2918866 |
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| Johnson RT, Squires S, Elliott GC, Rainbow AJ, Koch GL, Smith M, Analysis of DNA repair in XP-HeLa hybrids; lack of correlation between excision repair of u.v. damage and adenovirus reactivation in an XP(D)- like cell line. Carcinogenesis7:1733-8 1986 |
| PubMed ID: 3757174 |
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| Yamaizumi M, Sugano T, Asahina H, Okada Y, Uchida T, Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. Proc Natl Acad Sci U S A83:1476-9 1986 |
| PubMed ID: 3456596 |
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| Moshell, A.N., M.B. Ganges, M.A. Lutzner, H.G. Coon, S.F. Barrett, J-M. Dupuy, and J.H. Robbins, A new patient with both xeroderma pigmentosum and Cockayne Syndrome comprises the new xeroderma pigmentosum complementation group H J Cell Biochem Suppl7B:202 (Abstr) 1983 |
| PubMed ID: 3456596 |
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| Lafforet D, Dupuy JM, Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome. Arch Fr Pediatr35(10 Suppl):65-74 1978 |
| PubMed ID: 749755 |
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| Moshell, A.N., M.B. Ganges, M.A. Lutzner, H.G. Coon, S.F. Barrett, J-M. Dupuy, and J.H. Robbins, A new patient with both xeroderma pigmentosum and Cockayne Syndrome establishes the new xeroderma pigmentosum complementation group H, in: E.C. Friedberg and B.A. Bridges (Eds), Cellular Responses to DNA Damage, Liss, New York Arch Fr Pediatr35(10 Suppl):209-213 1978 |
| PubMed ID: 749755 |
| dbSNP |
dbSNP ID: 13653 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
| Passage Frozen |
4 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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